Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/A/C | Ancestral: G | Ambiguity code: V

Chromosome 12:52306237 (forward strand) | View in location tab


with HGMD-PUBLIC CM993348, CM990785 ; ESP rs28939669 (G/A) ; PhenCode HIFD_KRT86:c.1204G>A (G/A), HIFD_KRT86:c.1204G>C (G/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 10 HGVS names - click the plus to show

About this variant

This variant overlaps 9 transcripts and is associated with 6 phenotypes.

Variation displays